Table 1.
Dysmagnesemia related to salt-losing nephropathy
| Inheritance | Mutant gene | Transporter/protein | Key features | |
|---|---|---|---|---|
| Bartter syndrome I | AR | SLC12A1 | NKCC | Regulated by CaSR, antenatal onset, hypokalemic, hypercalciuric metabolic alkalosis |
| Bartter syndrome II | AR | KCNJ1 | ROMK | Antenatal onset, can be hyperkalemic |
| Bartter syndrome III | AR | ClC-Kb | ClC subunit B | Variable childhood onset; milder form of Bartter syndrome; variable, Gitelman-like presentation |
| Bartter syndrome IV | AR | BSND | Barttin | Sensorineural hearing defect, CKD/ESRD in second or third decade of age |
| Bartter syndrome V | AD | CASR (activating mutation) | CaSR | Neonatal onset, can be variable; urine Mg2+ and Ca2+ loss |
| Gitelman syndrome | AR | SLC12A3 | NCC | Childhood and adolescent onset, hypocalciuric hypokalemic, metabolic alkalosis, urine Mg2+ loss |
AR, autosomal recessive; AD, autosomal dominant; NKCC, Na-K-Cl cotransporter; CaSR, calcium-sensing receptor; NCC, Na-Cl cotransporter; CKD, chronic kidney disease; ESRD, end-stage renal disease.